Mechanisms of trinucleotide repeat instability during human development

被引：348

作者：

McMurray, Cynthia T. ^{[1
,2
,3
]}

机构：

[1] Univ Calif Berkeley, Lawrence Berkeley Lab, Div Life Sci, Berkeley, CA 94720 USA

[2] Mayo Clin & Mayo Fdn, Dept Mol Pharmacol & Expt Therapeut, Rochester, MN 55905 USA

[3] Mayo Clin & Mayo Fdn, Dept Biochem & Mol Biol, Rochester, MN 55905 USA

来源：

NATURE REVIEWS GENETICS | 2010年 / 11卷 / 11期

基金：

美国国家卫生研究院;

关键词：

BASE EXCISION-REPAIR; FRAGILE-X-SYNDROME; RNA-POLYMERASE-II; KNOCK-IN MICE; CAG REPEAT; HUNTINGTONS-DISEASE; MYOTONIC-DYSTROPHY; DNA-REPAIR; CTG REPEAT; TRIPLET REPEATS;

D O I：

10.1038/nrg2828

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.

引用

页码：786 / 799

页数：14

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